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Lookup NU author(s): Emerita Professor Katherine Bushby, Dr Michelle Eagle
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).
Introduction: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders. Methods: Randomized, double-blind, placebo-controlled study; males >= 5 years with nm-dystrophinopathy received study drug orally 3 times daily, ataluren 10, 10, 20 mg/kg (N=57); ataluren 20, 20, 40 mg/kg (N=60); or placebo (N=57) for 48 weeks. The primary endpoint was change in 6-Minute Walk Distance (6MWD) at Week 48. Results: Ataluren was generally well tolerated. The primary endpoint favored ataluren 10, 10, 20 mg/kg versus placebo; the week 48 6MWD Delta=31.3 meters, post hoc P=0.056. Secondary endpoints (timed function tests) showed meaningful differences between ataluren 10, 10, 20 mg/kg, and placebo. Conclusions: As the first investigational new drug targeting the underlying cause of nm-dystrophinopathy, ataluren offers promise as a treatment for this orphan genetic disorder with high unmet medical need.
Author(s): Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Sweeney HL, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'Donnell MW, Peltz SW, McDonald CM, PTC124-GD-007-DMD Study Grp
Publication type: Article
Publication status: Published
Journal: Muscle & Nerve
Year: 2014
Volume: 50
Issue: 4
Pages: 477-487
Print publication date: 01/10/2014
Online publication date: 22/09/2014
Acceptance date: 01/07/2014
Date deposited: 09/09/2015
ISSN (print): 0148-639X
ISSN (electronic): 1097-4598
Publisher: Wiley-Blackwell Publishing Ltd.
URL: http://dx.doi.org/10.1002/mus.24332
DOI: 10.1002/mus.24332
PubMed id: 25042182
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